ADHDgene Database

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Large-scale studies

Data Summary

Published Variant
- SNP: 1391
- CNV: 398
- Others: 173
Published Gene: 359
Published Region: 128
Pathway by PBA: 8
Study: 361

Detail ...

Gene Report

Basic Info

Approved Symbol	GEMIN2
Previous Symbol	SIP1
Approved Name	gem (nuclear organelle) associated protein 2
Previous Name	"survival of motor neuron protein interacting protein 1"
Location	14q21.1
Position	chr14:39583427-39606177, 1
External Links	HGNC: 10884 Entrez Gene: 8487 Ensembl: ENSG00000092208 UCSC: uc001wuq.3
No. of Studies	1 (significant: 1; non-significant: 0; trend: 0)
Source	Literature-origin; Mapped by Literature SNP

Gene related studies (count: 1)

Reference	Statistical Values/Author Comments	Result of Statistical Analysis
Schimmelmann, B. G.,2013	Association signal of nominal p value is below 5% for the SNP within this gene, but it did not survive adjustment for multiple testing.	Significant

Gene related SNPs (count: 6)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (significant/non-significant/trend)
rs9322993	chr14:39605542(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant; NMD_transcript_variant	1(1/0/0)

LD-proxies (count: 5)

rs_ID	Location	Functional Annotation
rs8011855	chr14:39604035(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant; NMD_transcript_variant
rs11157046	chr14:39598967(Fwd)	downstream_gene_variant; intron_variant; NMD_transcript_variant; upstream_gene_variant
rs4902402	chr14:39579628(Fwd)	downstream_gene_variant; upstream_gene_variant
rs8014255	chr14:39592210(Fwd)	downstream_gene_variant; intron_variant; NMD_transcript_variant
rs6571897	chr14:39587438(Fwd)	intron_variant; nc_transcript_variant; NMD_transcript_variant

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 15)

GO terms by PBA (with statistical significance of FDR<0.05) (count: 1)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0005681	spliceosomal complex	cellular component	IEA	43

GO terms by database search (count: 14)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0010467	gene expression	biological process	TAS	154
GO:0006397	mRNA processing	biological process	TAS[9323130]	53
GO:0005654	nucleoplasm	cellular component	TAS	210
GO:0005829	cytosol	cellular component	TAS	485
GO:0008380	RNA splicing	biological process	TAS[9323129]	70
GO:0015030	Cajal body	cellular component	IEA	13
GO:0005515	protein binding	molecular function	IPI	1015
GO:0005737	cytoplasm	cellular component	TAS[9323130]	781
GO:0000387	spliceosomal snRNP assembly	biological process	TAS	11
GO:0005634	nucleus	cellular component	TAS[9323130]	877
GO:0016070	RNA metabolic process	biological process	TAS	54
GO:0000245	spliceosomal complex assembly	biological process	IEA	9
GO:0000375	RNA splicing, via transesterification reactions	biological process	TAS[9323129]	12
GO:0034660	ncRNA metabolic process	biological process	TAS	9

Gene related KEGG pathways (count: 0)

Genes shared at least 5 GO terms with GEMIN2 (count: 88)

Gene Symbol	Pathway Count	Pathway List
SNRPG	11	gene expression; mRNA processing; nucleoplasm; cytosol; RNA splicing; protein binding; spliceosomal snRNP assembly; RNA metabolic process; spliceosomal complex assembly; spliceosomal complex; ncRNA metabolic process;
SNRPD2	10	gene expression; nucleoplasm; cytosol; RNA splicing; protein binding; spliceosomal snRNP assembly; RNA metabolic process; spliceosomal complex assembly; spliceosomal complex; ncRNA metabolic process;
NCBP1	10	gene expression; mRNA processing; nucleoplasm; cytosol; RNA splicing; protein binding; spliceosomal snRNP assembly; nucleus; RNA metabolic process; ncRNA metabolic process;
SNRPD1	10	gene expression; nucleoplasm; cytosol; RNA splicing; protein binding; spliceosomal snRNP assembly; nucleus; RNA metabolic process; spliceosomal complex assembly; ncRNA metabolic process;
SNRPB	10	gene expression; mRNA processing; nucleoplasm; cytosol; RNA splicing; protein binding; spliceosomal snRNP assembly; RNA metabolic process; spliceosomal complex; ncRNA metabolic process;
SNRPD3	10	gene expression; mRNA processing; nucleoplasm; cytosol; RNA splicing; protein binding; spliceosomal snRNP assembly; RNA metabolic process; spliceosomal complex; ncRNA metabolic process;
EFTUD2	9	gene expression; mRNA processing; nucleoplasm; RNA splicing; Cajal body; protein binding; cytoplasm; nucleus; spliceosomal complex;
SNRPF	9	gene expression; mRNA processing; nucleoplasm; cytosol; RNA splicing; spliceosomal snRNP assembly; RNA metabolic process; spliceosomal complex; ncRNA metabolic process;
HNRNPA2B1	8	gene expression; mRNA processing; nucleoplasm; RNA splicing; protein binding; cytoplasm; nucleus; spliceosomal complex;
SF3A3	8	gene expression; mRNA processing; nucleoplasm; RNA splicing; protein binding; nucleus; RNA splicing, via transesterification reactions; spliceosomal complex;
RNPS1	8	gene expression; nucleoplasm; cytosol; RNA splicing; protein binding; cytoplasm; nucleus; RNA metabolic process;
HSPA8	8	gene expression; mRNA processing; cytosol; RNA splicing; protein binding; nucleus; RNA metabolic process; spliceosomal complex;
PRPF4	8	gene expression; nucleoplasm; RNA splicing; Cajal body; protein binding; nucleus; RNA splicing, via transesterification reactions; spliceosomal complex;
PRPF6	8	gene expression; nucleoplasm; RNA splicing; protein binding; nucleus; spliceosomal complex assembly; RNA splicing, via transesterification reactions; spliceosomal complex;
U2AF1	8	gene expression; mRNA processing; nucleoplasm; RNA splicing; Cajal body; protein binding; nucleus; spliceosomal complex;
SMNDC1	8	mRNA processing; RNA splicing; Cajal body; protein binding; cytoplasm; nucleus; RNA splicing, via transesterification reactions; spliceosomal complex;
SF3A1	7	gene expression; mRNA processing; nucleoplasm; RNA splicing; protein binding; nucleus; spliceosomal complex;
CLNS1A	7	gene expression; cytosol; protein binding; spliceosomal snRNP assembly; nucleus; RNA metabolic process; ncRNA metabolic process;
XPO1	7	gene expression; nucleoplasm; cytosol; Cajal body; protein binding; cytoplasm; RNA metabolic process;
TXNL4A	7	gene expression; nucleoplasm; RNA splicing; protein binding; spliceosomal complex assembly; RNA splicing, via transesterification reactions; spliceosomal complex;
SF3B4	7	gene expression; mRNA processing; nucleoplasm; RNA splicing; protein binding; RNA splicing, via transesterification reactions; spliceosomal complex;
HNRNPA1	7	gene expression; mRNA processing; nucleoplasm; RNA splicing; cytoplasm; nucleus; spliceosomal complex;
PSMC3	7	gene expression; nucleoplasm; cytosol; protein binding; cytoplasm; nucleus; RNA metabolic process;
SART1	7	nucleoplasm; cytosol; Cajal body; protein binding; cytoplasm; spliceosomal snRNP assembly; nucleus;
DHX9	6	gene expression; nucleoplasm; RNA splicing; protein binding; cytoplasm; nucleus;
DCPS	6	gene expression; cytosol; protein binding; cytoplasm; nucleus; RNA metabolic process;
HNRNPH1	6	gene expression; nucleoplasm; RNA splicing; protein binding; cytoplasm; nucleus;
U2AF2	6	gene expression; mRNA processing; nucleoplasm; RNA splicing; protein binding; spliceosomal complex;
YAP1	6	gene expression; nucleoplasm; cytosol; protein binding; cytoplasm; nucleus;
SMG1	6	gene expression; cytosol; protein binding; cytoplasm; nucleus; RNA metabolic process;
NEDD4L	6	gene expression; nucleoplasm; cytosol; protein binding; cytoplasm; nucleus;
SNRPB2	6	gene expression; mRNA processing; nucleoplasm; RNA splicing; protein binding; spliceosomal complex;
CD2BP2	6	gene expression; nucleoplasm; RNA splicing; protein binding; cytoplasm; nucleus;
SMG7	6	gene expression; cytosol; protein binding; cytoplasm; nucleus; RNA metabolic process;
SNRNP200	6	gene expression; nucleoplasm; RNA splicing; protein binding; nucleus; spliceosomal complex;
SF3B3	6	gene expression; mRNA processing; nucleoplasm; RNA splicing; RNA splicing, via transesterification reactions; spliceosomal complex;
MEN1	6	gene expression; nucleoplasm; cytosol; protein binding; cytoplasm; nucleus;
PARN	6	gene expression; cytosol; protein binding; cytoplasm; nucleus; RNA metabolic process;
FUS	6	gene expression; nucleoplasm; RNA splicing; protein binding; cytoplasm; nucleus;
SMC1A	6	gene expression; nucleoplasm; RNA splicing; protein binding; cytoplasm; nucleus;
LSM4	6	gene expression; mRNA processing; cytosol; RNA splicing; protein binding; RNA metabolic process;
CPSF7	6	gene expression; mRNA processing; nucleoplasm; RNA splicing; protein binding; nucleus;
SF3B2	6	gene expression; mRNA processing; nucleoplasm; RNA splicing; nucleus; spliceosomal complex;
RPS3	6	gene expression; cytosol; protein binding; cytoplasm; nucleus; RNA metabolic process;
DDX23	6	gene expression; nucleoplasm; RNA splicing; protein binding; nucleus; RNA splicing, via transesterification reactions;
PRPF8	6	gene expression; mRNA processing; nucleoplasm; RNA splicing; protein binding; RNA splicing, via transesterification reactions;
RBM4	6	mRNA processing; nucleoplasm; RNA splicing; protein binding; cytoplasm; nucleus;
TNKS1BP1	5	gene expression; cytosol; cytoplasm; nucleus; RNA metabolic process;
TAF10	5	gene expression; nucleoplasm; protein binding; cytoplasm; nucleus;
DGCR8	5	gene expression; nucleoplasm; protein binding; cytoplasm; nucleus;
PSMD7	5	gene expression; nucleoplasm; cytosol; protein binding; RNA metabolic process;
PSMB7	5	gene expression; nucleoplasm; cytosol; protein binding; RNA metabolic process;
RPS9	5	gene expression; cytosol; protein binding; cytoplasm; RNA metabolic process;
CREBBP	5	gene expression; nucleoplasm; protein binding; cytoplasm; nucleus;
RQCD1	5	gene expression; cytosol; protein binding; nucleus; RNA metabolic process;
SF3A2	5	gene expression; mRNA processing; nucleoplasm; RNA splicing; spliceosomal complex;
SUGP1	5	gene expression; nucleoplasm; RNA splicing; nucleus; spliceosomal complex;
PSME1	5	gene expression; nucleoplasm; cytosol; cytoplasm; RNA metabolic process;
LSM11	5	gene expression; mRNA processing; nucleoplasm; protein binding; nucleus;
PAIP1	5	gene expression; cytosol; protein binding; cytoplasm; RNA metabolic process;
RAN	5	gene expression; nucleoplasm; cytosol; protein binding; cytoplasm;
HNRNPC	5	gene expression; nucleoplasm; RNA splicing; protein binding; spliceosomal complex;
PGR	5	gene expression; nucleoplasm; protein binding; cytoplasm; nucleus;
RPL14	5	gene expression; cytosol; protein binding; cytoplasm; RNA metabolic process;
NR4A2	5	gene expression; nucleoplasm; protein binding; cytoplasm; nucleus;
SNRPA	5	gene expression; nucleoplasm; RNA splicing; protein binding; spliceosomal complex;
UBB	5	gene expression; nucleoplasm; cytosol; protein binding; RNA metabolic process;
RPS2	5	gene expression; nucleoplasm; cytosol; protein binding; RNA metabolic process;
CPSF3	5	gene expression; mRNA processing; nucleoplasm; RNA splicing; protein binding;
SNRPA1	5	gene expression; nucleoplasm; RNA splicing; protein binding; spliceosomal complex;
RBPJ	5	gene expression; nucleoplasm; protein binding; cytoplasm; nucleus;
PSMD5	5	gene expression; nucleoplasm; cytosol; protein binding; RNA metabolic process;
UBC	5	gene expression; nucleoplasm; cytosol; protein binding; RNA metabolic process;
CNOT6	5	gene expression; cytosol; protein binding; nucleus; RNA metabolic process;
MAPK3	5	gene expression; nucleoplasm; cytosol; protein binding; nucleus;
SSRP1	5	gene expression; nucleoplasm; protein binding; cytoplasm; nucleus;
IARS	5	gene expression; cytosol; protein binding; cytoplasm; nucleus;
SNW1	5	gene expression; nucleoplasm; protein binding; nucleus; spliceosomal complex;
RBFOX1	5	mRNA processing; RNA splicing; protein binding; cytoplasm; nucleus;
BCAS2	5	mRNA processing; RNA splicing; protein binding; RNA splicing, via transesterification reactions; spliceosomal complex;
EGLN3	5	nucleoplasm; cytosol; protein binding; cytoplasm; nucleus;
RELA	5	nucleoplasm; cytosol; protein binding; cytoplasm; nucleus;
MAPK1	5	nucleoplasm; cytosol; protein binding; cytoplasm; nucleus;
IRF7	5	nucleoplasm; cytosol; protein binding; cytoplasm; nucleus;
NUMA1	5	nucleoplasm; cytosol; protein binding; cytoplasm; nucleus;
FANCC	5	nucleoplasm; cytosol; protein binding; cytoplasm; nucleus;
IRF9	5	nucleoplasm; cytosol; protein binding; cytoplasm; nucleus;
PDCD4	5	cytosol; protein binding; cytoplasm; nucleus; RNA metabolic process;

Genes shared at least 2 KEGG pathways with GEMIN2 (count: 0)

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Region: chr14:39583427..39606177 View in gBrowse